Caffey Disease in Infancy: A diagnostic dilemma for primary care physicians

Caffey disease is a rare and self-limiting condition characterised by cortical hyperostosis with inflammation of adjacent fascia and muscles. It usually presents in infancy and clinical features include hyperirritability, acute inflammation with swelling of overlying soft tissues and subperiosteal new bone formation. Awareness of the existence of this rare condition and its typical clinical and radiological profile will avoid unnecessary investigations and treatment and help the physician to explain its good prognosis to parents of affected children. We report a three-month-old male infant who presented to the Outpatient Paediatrics Department at Moti Lal Nehru Medical College, Allahabad, India, in 2018 with a right shoulder mass, decreased upper limb movements and irritability. The patient was treated with ibuprofen and paracetamol. Irritability and limitation of movement improved over a treatment period of two weeks.Keywords: Caffey Disease; Infant; Prostaglandin E1; Thrombocytosis; Case Report; India

Clinical, pathological and molecular factors predicting Axillary Node involvement in primary Breast Cancer in Pakistani women

Background: Axillary lymph node involvement in primary breast cancer is one of its most important prognostic features. Thus any factors that may predict axillary lymph node involvement in this setting could be potentially helpful in treatment planning and other interventions. Objective: The objective of this study was to evaluate clinical, pathological and immuno-histochemical markers in univariate and multivariate analysis, which may be helpful predictors of axillary lymph node involvement in breast cancer. Method: A retrospective analysis of 555 cases. Of these 58% had axillary nodal positivity and 42% were negative. Conclusion: Factors of no significance included patient’s age, height, weight, age of first pregnancy, parity, marital status, menopausal status, family history of breast cancer, side of tumor. In univariate analysis the age of menarche, duration of symptoms, tumor size, site in outer quadrant, S phase and skin and nipple involvement all predicted axillary nodal involvement. The length of breast-feeding, increased intraductal component and increased PCNA were inversely proportional to nodal involvement. In multiple regression analysis however only size of the tumor, involvement of the skin and nipple and disease in the outer quadrant of breast were the factors, which assumed significanc

Determination of Alpha-i Antitrypsin Genetic Deficiency in Duodenal Ulcer by Polymerase Chain Reaction

Objective: To confirm alpha-I-AT deficiency status in duodenal ulcer using a combination of PCR and restricted enzyme digestion. Methods: Fifty patients with endoscopically proven duodenal ulcer and hundred controls with no signs of the disease were included. Alpha-i-AT phenotypes were confirmed by polymerase chain reaction followed by restriction enzyme digestion. Results:Alpha-I-AT concentration in duodenal ulcer patients showed a mean value of 2.12 ± 0.11g/1 (range: 0.52-3.95 g/1, p Conclusion: Alpha-1 AT deficiency was found in 10% of duodenal ulcer patients. DNA analysis more accurately resolved the phenotypes as S and Z mutations (JPMA 52:545; 2002)

Genetic Markers and Duodenal Ulcer

Serum pepsinogen, ui-antitrypsin (ui-AT) and blood groups were studied as genetic markets in 32 patients with endoscopically proven duodenal ulcer and 44 control subjects with no family history of ulcer disease. Serum pepsinogen was detennined by the modified method of Edward et al7, a1-AT by single radial hnmunodiffusion8 (RID) and phenotyping was carried out by isoelectric focusing (IEF)9. Duodenal ulcer patients with hyper- pepsinogenemia (28%) and low serum ui-AT (35%) had a dominant blood group 0, lower mean age, an early onset of disease, a higher frequency of gastrointestinal (CI) bleeding and ulcer perforation. These parameters were found considerably different in patients with normal serum pepsi­nogen and ui-AT. Phenotype analysis of a1-AT revealed that four duodenal ulcer patients had partial deficiency of the protease inhibitor and none of the normal exhibited the deficiency pattern. The etiology of the disease appears to be genetic anomaly in 28% of patients while the rest (72%) had ulcers as a result of neuroendocrinological or environmental factors (JPMA 47:135,1997)

Predictors of poor quality of life after primary lower limb deep venous thrombosis: A perspective from a developing nation

Objective: We aimed to determine predictors of poor long term quality of life, using the VEINES Quality of Life (QOL) questionnaire, in patients with lower limb deep venous thrombosis (DVT).Material and Methods: This study included adult patients with primary lower limb DVT between January 2007 and December 2017. Post thrombotic syndrome (PTS) was assessed using the Villalta score and Quality of Life (QoL) by the VEINES quality of life questionnaire.Results: Our study included 125 patients, 57 (45.6%) of whom were males. The patient population\u27s median age was 41 years (IQR: 34-47 years). The median follow up was 450 days (IQR: 390-1020 days). PTS occurred in 49 (39.2%) patients. Independent predictors of poor quality of life post DVT were progression to PTS, complete occlusion of vein, proximal (Ileofemoral) DVT, poor control of INR, poor compliance with compression stockings, severity of PTS, ileofemoral DVT and poor control of therapeutic anticoagulation.Conclusion: Predictors who are independently associated with poor quality of life post DVT are PTS, inability to maintain therapeutic anticoagulation and ileofemoral DVT